Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02885:Borcs6'

362986

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Borcs6

Ensembl Gene

ENSMUSG00000045176

Gene Name

BLOC-1 related complex subunit 6

Synonyms

2310047M10Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02885

Quality Score

Status

Chromosome

Chromosomal Location

68950601-68952402 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 68951072 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 150 (D150G)

Ref Sequence

ENSEMBL: ENSMUSP00000059143 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051888]

AlphaFold

Q9D6W8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051888
AA Change: D150G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000059143
Gene: ENSMUSG00000045176
AA Change: D150G

Domain	Start	End	E-Value	Type
low complexity region	43	55	N/A	INTRINSIC
low complexity region	104	117	N/A	INTRINSIC
low complexity region	144	162	N/A	INTRINSIC
low complexity region	173	204	N/A	INTRINSIC
Pfam:DUF2365	215	358	1.9e-52	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000101007

SMART Domains

Protein: ENSMUSP00000098570
Gene: ENSMUSG00000072809

Domain	Start	End	E-Value	Type
low complexity region	31	65	N/A	INTRINSIC
low complexity region	74	88	N/A	INTRINSIC
low complexity region	101	116	N/A	INTRINSIC
low complexity region	134	145	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,948,152 (GRCm39)	N683S	probably benign	Het
Ahi1	T	A	10: 20,931,012 (GRCm39)	F46I	possibly damaging	Het
Als2	C	T	1: 59,206,650 (GRCm39)	V1598I	probably benign	Het
Arid1b	A	T	17: 5,392,428 (GRCm39)	D1986V	probably damaging	Het
Bhlhe41	T	A	6: 145,810,989 (GRCm39)	D2V	probably damaging	Het
Ccdc88a	G	T	11: 29,398,050 (GRCm39)	R261L	probably damaging	Het
Ccne2	T	A	4: 11,198,723 (GRCm39)		probably benign	Het
Cenpk	A	G	13: 104,385,903 (GRCm39)	D266G	probably damaging	Het
Ces2b	T	C	8: 105,561,563 (GRCm39)	V219A	probably damaging	Het
Cpa1	A	G	6: 30,645,169 (GRCm39)	R382G	probably damaging	Het
Cplx4	G	T	18: 66,089,984 (GRCm39)	T145N	probably damaging	Het
Cyp19a1	T	C	9: 54,079,102 (GRCm39)	I269V	probably benign	Het
Dennd3	A	G	15: 73,440,545 (GRCm39)	Y1192C	probably benign	Het
Dpp6	T	C	5: 27,923,471 (GRCm39)	Y694H	probably damaging	Het
Eea1	C	A	10: 95,877,346 (GRCm39)	N1353K	probably benign	Het
Fam111a	T	A	19: 12,561,488 (GRCm39)		probably null	Het
Fat1	T	C	8: 45,442,204 (GRCm39)	S1169P	probably benign	Het
Frk	G	T	10: 34,360,067 (GRCm39)	A23S	probably benign	Het
Fyb2	T	C	4: 104,861,118 (GRCm39)	V594A	probably damaging	Het
Gtpbp3	C	A	8: 71,942,064 (GRCm39)		probably benign	Het
Hoxa5	G	T	6: 52,179,688 (GRCm39)	A229D	probably damaging	Het
Ift25	G	A	4: 107,130,866 (GRCm39)	C52Y	possibly damaging	Het
Igf2r	A	T	17: 12,913,007 (GRCm39)	F1780L	possibly damaging	Het
Jade2	A	T	11: 51,722,123 (GRCm39)	D143E	probably damaging	Het
Kdm1a	T	C	4: 136,279,846 (GRCm39)	I719V	probably benign	Het
Lama1	G	A	17: 68,111,531 (GRCm39)	G2261R	probably damaging	Het
Lmx1b	G	T	2: 33,457,216 (GRCm39)	Q206K	probably benign	Het
Lrrtm4	G	A	6: 79,998,786 (GRCm39)	G66D	probably damaging	Het
Myg1	G	T	15: 102,240,594 (GRCm39)	G90C	probably damaging	Het
Nbea	C	T	3: 55,539,407 (GRCm39)	V2785I	probably benign	Het
Ncr1	C	A	7: 4,341,225 (GRCm39)	P35Q	probably damaging	Het
Nos1	T	A	5: 118,033,855 (GRCm39)	C326S	probably damaging	Het
Or12j2	T	C	7: 139,916,072 (GRCm39)	F99S	possibly damaging	Het
Or3a1	G	T	11: 74,225,519 (GRCm39)	H179Q	possibly damaging	Het
Or52r1	A	T	7: 102,537,243 (GRCm39)	V39E	possibly damaging	Het
Pde4d	A	G	13: 110,084,795 (GRCm39)	Y520C	probably damaging	Het
Ppm1d	A	G	11: 85,217,770 (GRCm39)	M178V	possibly damaging	Het
Samd3	G	A	10: 26,147,762 (GRCm39)	R479K	probably benign	Het
Semp2l2b	T	A	10: 21,943,057 (GRCm39)	I308F	possibly damaging	Het
Serpinb6a	A	G	13: 34,102,782 (GRCm39)	V226A	probably benign	Het
Slc26a4	T	C	12: 31,575,475 (GRCm39)	E737G	probably benign	Het
Slc34a3	A	G	2: 25,121,069 (GRCm39)	C340R	probably damaging	Het
Spata31d1b	C	A	13: 59,866,941 (GRCm39)		probably benign	Het
Trappc12	A	G	12: 28,797,013 (GRCm39)	V173A	probably benign	Het
Vmn2r66	A	T	7: 84,644,723 (GRCm39)	D562E	probably benign	Het
Zfp395	C	T	14: 65,633,344 (GRCm39)	P451L	probably benign	Het

Other mutations in Borcs6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02213:Borcs6	APN	11	68,950,679 (GRCm39)	missense	probably benign
R4624:Borcs6	UTSW	11	68,951,423 (GRCm39)	missense	probably damaging	1.00
R5207:Borcs6	UTSW	11	68,951,674 (GRCm39)	missense	probably damaging	1.00
R7514:Borcs6	UTSW	11	68,951,410 (GRCm39)	missense	probably damaging	1.00
R8246:Borcs6	UTSW	11	68,951,377 (GRCm39)	missense	probably benign	0.06
R8306:Borcs6	UTSW	11	68,950,646 (GRCm39)	missense	probably benign
R8984:Borcs6	UTSW	11	68,950,828 (GRCm39)	missense	probably benign	0.00
X0062:Borcs6	UTSW	11	68,951,185 (GRCm39)	missense	probably benign	0.15
Z1186:Borcs6	UTSW	11	68,951,453 (GRCm39)	missense	possibly damaging	0.72
Z1187:Borcs6	UTSW	11	68,951,453 (GRCm39)	missense	possibly damaging	0.72
Z1188:Borcs6	UTSW	11	68,951,453 (GRCm39)	missense	possibly damaging	0.72
Z1189:Borcs6	UTSW	11	68,951,453 (GRCm39)	missense	possibly damaging	0.72
Z1190:Borcs6	UTSW	11	68,951,453 (GRCm39)	missense	possibly damaging	0.72
Z1191:Borcs6	UTSW	11	68,951,453 (GRCm39)	missense	possibly damaging	0.72
Z1192:Borcs6	UTSW	11	68,951,453 (GRCm39)	missense	possibly damaging	0.72

Posted On

2015-12-18